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Title:

Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene.

Document type:
Case Reports; Journal Article; Editorial Material
Author(s):
Schulz, C; Kress, W; Schömig, A; Wessely, R
Abstract:
Crouzon syndrome is an autosomal dominant disorder caused by mutation in the fibroblast growth factor receptor (FGFR)-2 gene. Recent findings from animal studies imply a critical role for FGFs in the regulation of cardiac development including cardiac cushion proliferation and valvulogenesis. We report on a 36-year-old woman, who required surgical closure for an atrial septal defect, a clinical feature that has not been previously reported in other patients with Crouzon syndrome. The findings su...     »
Journal title abbreviation:
Clin Genet
Year:
2007
Journal volume:
72
Journal issue:
4
Pages contribution:
305-7
Language:
eng
Fulltext / DOI:
doi:10.1111/j.1399-0004.2007.00861.x
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/17850625
Print-ISSN:
0009-9163
TUM Institution:
I. Medizinische Klinik und Poliklinik (Kardiologie)
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